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Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, Cuartas D, Nastasi-Catanese JA, Ramírez-Montaño D, Silva YK, Moreno L, Satizabal J, Garcia N, Montoya J, Prada C, Porras G, Velasco H, Candelo E. Pachajoa H, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):388-395. doi: 10.1002/ajmg.c.31936. Epub 2021 Sep 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34542925
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Pineda T, Marie S, Gonzalez J, García AL, Acosta A, Morales M, Correa LN, Vivas R, Escobar X, Protzel A, Barba M, Ospina S, Corredor C, Mansilla S, Velasco HM. Pineda T, et al. Among authors: velasco hm. Mol Genet Metab Rep. 2014 Oct 30;1:468-473. doi: 10.1016/j.ymgmr.2014.10.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896125 Free PMC article.
21 results